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Poikiloderma with neutropenia

disorder
SNOMED 772126000CUI C1858723

Overview

Poikiloderma with neutropenia is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Keratoderma
Always present (100%)HP:0000982
Lacrimal duct obstruction
Always present (100%)HP:0000579
Leukopenia
Always present (100%)HP:0001882
Neutropoenia
Always present (100%)HP:0001875
Plantar hyperkeratosis
Always present (100%)HP:0007556
Poikiloderma
Always present (100%)HP:0001029
Recurrent bronchopneumonia
Always present (100%)HP:0006538
Rotting teeth
Always present (100%)HP:0000670
Skin rash
Always present (100%)HP:0000988
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
Increased lactate dehydrogenase level
Very frequent (80-99%)HP:0025435
Large spleen
Very frequent (80-99%)HP:0001744
Decreased body height
Frequent (30-79%)HP:0004322
Dystrophic nails
Frequent (30-79%)HP:0008404
Epidermal hyperkeratosis
Frequent (30-79%)HP:0000962
Flat nasal bridge
Frequent (30-79%)HP:0005280
Frontal protuberance
Frequent (30-79%)HP:0002007
Growth deficiency
Frequent (30-79%)HP:0001510
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased length of philtrum
Frequent (30-79%)HP:0000343
Laterally sparse eyebrows
Frequent (30-79%)HP:0005338
Ligamentous laxity
Frequent (30-79%)HP:0001382
Low posterior hair line
Frequent (30-79%)HP:0002162
pulmonary infections, recurrent
Frequent (30-79%)HP:0006532
Recurrent middle ear infection
Frequent (30-79%)HP:0000403
Recurrent sinus infections
Frequent (30-79%)HP:0011108
Reticular hyperpigmentation
Frequent (30-79%)HP:0007588
Retrognathia
Frequent (30-79%)HP:0000278

Related Conditions

Recessive hereditary disorder (autosomal)(parent)
Chronic skin disease(parent)
Neutropenic disorder(parent)
Hereditary disorder of the integument(parent)
Hereditary white blood cell disorder(parent)
Poikiloderma(parent)
Chronic disease of immune function(parent)

Quick Facts

SNOMED CT
772126000
UMLS CUI
C1858723
Fully Specified Name
Poikiloderma with neutropenia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.